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A Novel Point Mutation in the Steroid Sulfatase Gene in X-linked Ichthyosis.

✍ Scribed by Morita, Eishin; Katoh, Osamu; Shinoda, Susumu; Hiragun, Takaaki; Tanaka, Toshihiko; Kameyoshi, Yoshikazu; Yamamoto, Shoso

Book ID
110682117
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
752 KB
Volume
109
Category
Article
ISSN
0022-202X

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We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of either isolated ichthyosis or ichthyosis associated with Kallmann syndrome (KS) (hypogonadotrop